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Results: 1-25 | 26-42
Results: 1-25/42
SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: BRAIS B BOUCHARD JP XIE YG ROCHEFORT DL CHRETIEN N TOME FMS LAFRENIERE RG ROMMENS JM UYAMA E NOHIRA O BLUMEN S KORCYN AD HEUTINK P MATHIEU J DURANCEAU A CODERE F FARDEAU M ROULEAU GA
Citation: B. Brais et al., SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Nature genetics, 18(2), 1998, pp. 164-167
AUTOSOMAL RECESSIVE OCULOPHARYNGODISTAL MYOPATHY IN LIGHT OF DISTAL MYOPATHY WITH RIMMED VACUOLES AND OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: UYAMA E UCHINO M CHATEAU D TOME FMS
Citation: E. Uyama et al., AUTOSOMAL RECESSIVE OCULOPHARYNGODISTAL MYOPATHY IN LIGHT OF DISTAL MYOPATHY WITH RIMMED VACUOLES AND OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 8(2), 1998, pp. 119-125
NOTCH3 GENE MUTATION IN THE FIRST JAPANESE CADASIL FAMILY
Authors: UYAMA E KAMIMURA K TAKAHASHI K TOKUNAGA M TABIRA T UCHINO M
Citation: E. Uyama et al., NOTCH3 GENE MUTATION IN THE FIRST JAPANESE CADASIL FAMILY, Annals of neurology, 44(3), 1998, pp. 11-11
THE FIRST JAPANESE FAMILY PRESENTING AS AUTOSOMAL-DOMINANT PROXIMAL SPINAL MUSCULAR-ATROPHY (OMIM-182980)
Authors: YAMAGUCHI K UYAMA E HARA A IMAMURA S UCHINO M
Citation: K. Yamaguchi et al., THE FIRST JAPANESE FAMILY PRESENTING AS AUTOSOMAL-DOMINANT PROXIMAL SPINAL MUSCULAR-ATROPHY (OMIM-182980), Annals of neurology, 44(3), 1998, pp. 126-126
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY - PHENOTYPE GENOTYPE DIFFERENCE IN2 UNRELATED JAPANESE FAMILIES/
Authors: UYAMA E BRAIS B NOHIRA O TOKUNAGA M CHATEAU D TOME FMS ROULEAU GA UCHINO M
Citation: E. Uyama et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY - PHENOTYPE GENOTYPE DIFFERENCE IN2 UNRELATED JAPANESE FAMILIES/, Annals of neurology, 44(3), 1998, pp. 146-146
SINGLE MUSCLE-FIBER ANALYSIS OF MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS
Authors: MITA S TOKUNAGA M UYAMA E KUMAMOTO T UEKAWA K UCHINO M
Citation: S. Mita et al., SINGLE MUSCLE-FIBER ANALYSIS OF MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS, Muscle & nerve, 21(4), 1998, pp. 490-497
AN ATYPICAL CASE OF ADULT MOYAMOYA-DISEASE WITH INITIAL ONSET OF BRAIN-STEM ISCHEMIA
Authors: HIRANO T UYAMA E TASHIMA K MITA S UCHINO M
Citation: T. Hirano et al., AN ATYPICAL CASE OF ADULT MOYAMOYA-DISEASE WITH INITIAL ONSET OF BRAIN-STEM ISCHEMIA, Journal of the neurological sciences, 157(1), 1998, pp. 100-104
ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE
Authors: HARA A UYAMA E UCHINO M SHIMMOTO M UTSUMI K ITOH K KASE R NAITO M SUGIYAMA E TAKETOMI T SUKEGAWA K SAKURABA H
Citation: A. Hara et al., ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE, Journal of the neurological sciences, 155(1), 1998, pp. 86-91
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPAN
Authors: UYAMA E NOHIRA O TOME FMS CHATEAU D TOKUNAGA M ANDO M MAKI M OKABE T UCHINO M
Citation: E. Uyama et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPAN, Neuromuscular disorders, 7, 1997, pp. 41-49
HIGH-INCIDENCE OF THROMBOSIS IN FABRYS-DISEASE
Authors: UTSUMI K YAMAMOTO N KASE R TAKATA T OKUMIYA T SAITO H SUZUKI T UYAMA E SAKURABA H
Citation: K. Utsumi et al., HIGH-INCIDENCE OF THROMBOSIS IN FABRYS-DISEASE, Internal medicine, 36(5), 1997, pp. 327-329
R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE ADULT CASE OF SANDHOFFS-DISEASE
Authors: UYAMA E HARA A IKENO K KASE R SHIMMOTO M SAKURABA H UCHINO M
Citation: E. Uyama et al., R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE ADULT CASE OF SANDHOFFS-DISEASE, Annals of neurology, 42(3), 1997, pp. 46-46
GENE LOCUS FOR AUTOSOMAL RECESSIVE DISTAL MYOPATHY WITH RIMMED VACUOLES MAPS TO CHROMOSOME-9
Authors: IKEUCHI T ASAKA T SAITO M TANAKA H HIGUCHI S TANAKA K SAIDA K UYAMA E MIZUSAWA H FUKUHARA N NONAKA I TAKAMORI M TSUJI S
Citation: T. Ikeuchi et al., GENE LOCUS FOR AUTOSOMAL RECESSIVE DISTAL MYOPATHY WITH RIMMED VACUOLES MAPS TO CHROMOSOME-9, Annals of neurology, 41(4), 1997, pp. 432-437
POSTEROVENTRAL PALLIDOTOMY IN A PATIENT WITH PARKINSONISM CAUSED BY HYPOXIC ENCEPHALOPATHY
Authors: GOTO S KUNITOKU N SOYAMA N YAMADA K OKAMURA A YOSHIKAWA M HIRATA Y UYAMA E USHIO Y
Citation: S. Goto et al., POSTEROVENTRAL PALLIDOTOMY IN A PATIENT WITH PARKINSONISM CAUSED BY HYPOXIC ENCEPHALOPATHY, Neurology, 49(3), 1997, pp. 707-710
D409H D409H GENOTYPE IN GAUCHER-LIKE DISEASE
Authors: UYAMA E UCHINO M IDA H ETO Y OWADA M
Citation: E. Uyama et al., D409H D409H GENOTYPE IN GAUCHER-LIKE DISEASE, Journal of Medical Genetics, 34(2), 1997, pp. 175-175
IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE
Authors: SAKURABA H ITOH K KUROKI Y KASE R SHIMMOTO M UTSUMI K OZAWA H TAI T HARA A UYAMA E
Citation: H. Sakuraba et al., IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE, Clinica chimica acta, 265(2), 1997, pp. 263-266
DISTRIBUTION OF DYSTROPHIN AND DYSTROPHIN-ASSOCIATED PROTEIN 43DAG (BETA-DYSTROGLYCAN) IN THE CENTRAL-NERVOUS-SYSTEM OF NORMAL CONTROLS ANDPATIENTS WITH DUCHENNE MUSCULAR-DYSTROPHY
Authors: UCHINO M HARA A MIZUNO Y FUJIKI M NAKAMURA T TOKUNAGA M HIRANO T YAMASHITA T UYAMA E ANDO Y MITA SJ ANDO M
Citation: M. Uchino et al., DISTRIBUTION OF DYSTROPHIN AND DYSTROPHIN-ASSOCIATED PROTEIN 43DAG (BETA-DYSTROGLYCAN) IN THE CENTRAL-NERVOUS-SYSTEM OF NORMAL CONTROLS ANDPATIENTS WITH DUCHENNE MUSCULAR-DYSTROPHY, Internal medicine, 35(3), 1996, pp. 189-194
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPANESE - CLINICOPATHOLOGICAL AND GENETIC-STUDIES
Authors: UYAMA E NOHIRA O BRAIS B TOME FMS TOKUNAGA M OKABE T ROULEAU GA CHATEAU D UCHINO M
Citation: E. Uyama et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPANESE - CLINICOPATHOLOGICAL AND GENETIC-STUDIES, Annals of neurology, 40(6), 1996, pp. 1-1
FAMILIAL ADULT MYOCLONUS EPILEPSY - A NEW PHENOTYPE OF AUTOSOMAL-DOMINANT MYOCLONUS EPILEPSY
Authors: UYAMA E TOKUNAGA M MURAKAMI T KUWANO A KONDO I UCHINO M
Citation: E. Uyama et al., FAMILIAL ADULT MYOCLONUS EPILEPSY - A NEW PHENOTYPE OF AUTOSOMAL-DOMINANT MYOCLONUS EPILEPSY, Annals of neurology, 40(3), 1996, pp. 62-62
TYPE-3 GM1 GANGLIOSIDOSIS - CLINICAL AND NEURORADIOLOGICAL FINDINGS IN AN 11-YEAR-OLD GIRL - COMMENT
Authors: UYAMA E UCHINO M ANDO M
Citation: E. Uyama et al., TYPE-3 GM1 GANGLIOSIDOSIS - CLINICAL AND NEURORADIOLOGICAL FINDINGS IN AN 11-YEAR-OLD GIRL - COMMENT, Journal of neurology, 243(3), 1996, pp. 295-297
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY 2 UNRELATED JAPANESE FAMILIES
Authors: UYAMA E NOHIRA O CHATEAU D TOKUNAGA M UCHINO M OKABE T ANDO M TOME FMS
Citation: E. Uyama et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY 2 UNRELATED JAPANESE FAMILIES, Neurology, 46(3), 1996, pp. 773-778
EXACERBATION OF MYASTHENIA-GRAVIS DURING INTERFERON-ALPHA - TREATMENT
Authors: UYAMA E FUJIKI N UCHINO M
Citation: E. Uyama et al., EXACERBATION OF MYASTHENIA-GRAVIS DURING INTERFERON-ALPHA - TREATMENT, Journal of the neurological sciences, 144(1-2), 1996, pp. 221-222
BENIGN ADULT FAMILIAL MYOCLONUS EPILEPSY (BAFME) - AN AUTOSOMAL-DOMINANT FORM NOT LINKED TO THE DENTATORUBRAL PALLIDOLUYSIAN ATROPHY (DRPLA) GENE
Authors: KUWANO A TAKAKUBO F MORIMOTO Y UYAMA E UCHINO M ANDO M YASUDA T TERAO A HAYAMA T KOBAYASHI R KONDO I
Citation: A. Kuwano et al., BENIGN ADULT FAMILIAL MYOCLONUS EPILEPSY (BAFME) - AN AUTOSOMAL-DOMINANT FORM NOT LINKED TO THE DENTATORUBRAL PALLIDOLUYSIAN ATROPHY (DRPLA) GENE, Journal of Medical Genetics, 33(1), 1996, pp. 80-81
INVOLVEMENT OF THE CENTRAL-NERVOUS-SYSTEM IN RHEUMATOID-ARTHRITIS - ITS CLINICAL MANIFESTATIONS AND ANALYSIS BY MAGNETIC-RESONANCE-IMAGING
Authors: ANDO Y KAI S UYAMA E IYONAGA K HASHIMOTO Y UCHINO M ANDO M
Citation: Y. Ando et al., INVOLVEMENT OF THE CENTRAL-NERVOUS-SYSTEM IN RHEUMATOID-ARTHRITIS - ITS CLINICAL MANIFESTATIONS AND ANALYSIS BY MAGNETIC-RESONANCE-IMAGING, Internal medicine, 34(3), 1995, pp. 188-191
POLYMERASE CHAIN-REACTION FIBER ANALYSIS AND SOMATIC MOSAICISM IN AUTOPSIED TISSUE FROM A MAN WITH DUCHENNE MUSCULAR-DYSTROPHY
Authors: UCHINO M TOKUNAGA M YAMASHITA T MITA S HARA A UYAMA E ANDO M
Citation: M. Uchino et al., POLYMERASE CHAIN-REACTION FIBER ANALYSIS AND SOMATIC MOSAICISM IN AUTOPSIED TISSUE FROM A MAN WITH DUCHENNE MUSCULAR-DYSTROPHY, Annals of neurology, 38(2), 1995, pp. 336-336
GENETIC INHERITANCE OF GILBERTS-SYNDROME - REPLY
Authors: SATO H ADACHI Y AONO S UYAMA E NANNO T KEINO H YAMADA Y KOIWAI O
Citation: H. Sato et al., GENETIC INHERITANCE OF GILBERTS-SYNDROME - REPLY, Lancet, 346(8970), 1995, pp. 315-315
Risultati: 1-25 | 26-42